Entry |
|
Name |
Retinitis pigmentosa |
Description |
Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) and non-syndromic (60 %) forms. The most frequent forms of syndromic RP are Usher syndrome and Bardet-Biedl syndrome. Mutations in more than 50 genes are known to cause non-syndromic RP. Non-syndromic RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
|
Category |
Nervous system disease
|
Brite |
Human diseases [BR:br08402]
Nervous system diseases
Eye disease
H00527 Retinitis pigmentosa
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Disorders of the eyeball posterior segment
Disorders of the retina
9B70 Inherited retinal dystrophies
H00527 Retinitis pigmentosa
|
Pathway |
hsa00900 | Terpenoid backbone biosynthesis |
|
Gene |
|
Drug |
Voretigene neparvovec [DR: D11008] (biallelic RPE65 mutated)
|
Other DBs |
|
Reference |
|
Authors |
Daiger SP, Bowne SJ, Sullivan LS |
Title |
Perspective on genes and mutations causing retinitis pigmentosa. |
Journal |
|
Reference |
|
Authors |
Phelan JK, Bok D |
Title |
A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes. |
Journal |
Mol Vis 6:116-24 (2000) |
Reference |
|
Authors |
Wang DY, Chan WM, Tam PO, Baum L, Lam DS, Chong KK, Fan BJ, Pang CP |
Title |
Gene mutations in retinitis pigmentosa and their clinical implications. |
Journal |
|
Reference |
PMID: 21233585 (RP4, RP7, RP20, RP38, RP40, RP43) |
Authors |
Sakamoto K, Mori A, Nakahara T, Ishii K |
Title |
[Cause of retinitis pigmentosa and new therapeutics under development] Japanese |
Journal |
|
Reference |
|
Authors |
Li T, Sandberg MA, Pawlyk BS, Rosner B, Hayes KC, Dryja TP, Berson EL |
Title |
Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures. |
Journal |
|
Reference |
|
Authors |
Pearce-Kelling SE, Aleman TS, Nickle A, Laties AM, Aguirre GD, Jacobson SG, Acland GM |
Title |
Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa. |
Journal |
Mol Vis 7:42-7 (2001) |
Reference |
|
Authors |
Tao W, Wen R, Goddard MB, Sherman SD, O'Rourke PJ, Stabila PF, Bell WJ, Dean BJ, Kauper KA, Budz VA, Tsiaras WG, Acland GM, Pearce-Kelling S, Laties AM, Aguirre GD |
Title |
Encapsulated cell-based delivery of CNTF reduces photoreceptor degeneration in animal models of retinitis pigmentosa. |
Journal |
Invest Ophthalmol Vis Sci 43:3292-8 (2002) |
Reference |
|
Authors |
Adams NA, Awadein A, Toma HS |
Title |
The retinal ciliopathies. |
Journal |
|
Reference |
|
Authors |
Burstedt MS, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O |
Title |
Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. |
Journal |
Arch Ophthalmol 119:260-7 (2001) |
Reference |
|
Authors |
Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D |
Title |
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. |
Journal |
|
LinkDB |
|